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<biogps><data><item key="owner">ArrayExpress Uploader</item><item key="pop_total">0</item><item key="id">2593</item><item key="factors"><item><item key="GSM672189"><item key="CELL TYPE">fibroblasts</item><item key="VARIATION">SMN1D7/+;SMN2+/+</item></item></item><item><item key="GSM672188"><item key="CELL TYPE">fibroblasts</item><item key="VARIATION">SMN1D7;SMN2+/+</item></item></item><item><item key="GSM672188"><item key="CELL TYPE">fibroblasts</item><item key="VARIATION">SMN1D7;SMN2+/+</item></item></item><item><item key="GSM672186"><item key="CELL TYPE">induced pluripotent stem cells (iPS cells)</item><item key="VARIATION">SMN1+/+;SMN2+/+</item></item></item><item><item key="GSM672186"><item key="CELL TYPE">induced pluripotent stem cells (iPS cells)</item><item key="VARIATION">SMN1+/+;SMN2+/+</item></item></item><item><item key="GSM672186"><item key="CELL TYPE">induced pluripotent stem cells (iPS cells)</item><item key="VARIATION">SMN1+/+;SMN2+/+</item></item></item><item><item key="GSM672183"><item key="CELL TYPE">induced pluripotent stem cells (iPS cells)</item><item key="VARIATION">SMN1D7/+;SMN2+/+</item></item></item><item><item key="GSM672182"><item key="CELL TYPE">induced pluripotent stem cells (iPS cells)</item><item key="VARIATION">SMN1D7;SMN2+/+</item></item></item><item><item key="GSM672182"><item key="CELL TYPE">induced pluripotent stem cells (iPS cells)</item><item key="VARIATION">SMN1D7;SMN2+/+</item></item></item></item><item key="ownerprofile_id">arrayexpress_sid</item><item key="platform">4</item><item key="summary_wrapped">Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease and is the second most common genetic disorder leading to...</item><item key="pubmed_id">23253609</item><item key="geo_gse_id">E-GEOD-27206</item><item key="owner_profile">/profile/8773/arrayexpressuploader</item><item key="factor_count">2</item><item key="sample_count">9</item><item key="tags"><item>disease</item><item>genetic disorder</item><item>motor neuron</item><item>motor neuron disease</item><item>muscular atrophy</item><item>neuron</item><item>spinal muscular atrophy</item></item><item key="lastmodified">Dec.12, 2014</item><item key="is_default">False</item><item key="geo_gds_id"/><item key="slug">global-gene-expression-profiles-of-ipsc-from-sma-p</item><item key="geo_id_plat">E-GEOD-27206_A-AFFY-44</item><item key="name">Global gene expression profiles of iPSC from SMA patient, unaffected father and iPS 19.9 compared to transcriptomic data obtained by corresponding fibroblasts</item><item key="created">Jul.12, 2014</item><item key="summary">Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease and is the second most common genetic disorder leading to death in childhood. Motoneurons derived from induced pluripotent stem cells (iPS cells) obtained by reprogramming SMA patient and his healthy father fibroblasts, and genetically corrected SMA-iPSC obtained converting SMN2 into SMN1 with target gene correction (TGC), were used to study gene expression and splicing events linked  to pathogenetic mechanisms. Microarray technology was used to assess global gene expression profiles of iPSC from SMA patient, unaffected father and iPS 19.9 (Prof. J. Thomson's lab) compared to transcriptomic data obtained by corresponding fibroblasts. The microarray data derived from three different individuals: SMA patient, healthy father and control iPS cells (19.9). We analyzed iPSC from SMA patient (n=2), iPS- from healthy father (n=1) and iPS-19.9 from Prof. Thomson's lab  (n=3). The expression profile was compared to SMA patient's fibroblasts (n=2) and healthy father's fibroblasts  (n=1)</item><item key="source">http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-27206</item><item key="species">human</item><item key="sample_source">http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-27206/samples/</item></data></biogps>
